J Korean Soc Endocrinol.  2003 Apr;18(2):206-213.

A Case of Syndrome of Resistance to Thyroid Hormone Associated with Mutation(M313T) in Thyroid Hormone Receptor Beta Gene

• Hwang JK
• Kim KW
• Kim TY
• Kim SW
• Park YJ
• Park DJ
• Kim SY
• Lee HK
• Cho BY

Abstract

Syndrome of resistance to thyroid hormone(RTH) is inherited by an autosomal dominant trait, and characterized by elevated thyroid hormone levels with reduced responsiveness of the pituitary and peripheral tissues to thyroid hormone action. All of the reported RTH patients have various mutations in the ligand-binding domain coding region of the thyroid hormone receptor beta gene. A 21-year-old man visited our hospital complaining of fatigue. He had mild thyroid goiter and intermittent palpitation. Thyroid function test showed elevated total T3, free T4, and TSH levels. Levels of TSH free a-subunit and basal pituitary hormones, except prolactin, were normal. MRI of the sellar region showed no abnormal finding. TSH response to TRH stimulation was normal, and TSH values to TRH stimulation after T3 suppression revealed partial response. Sequeuce analysis of the thyroid hormone receptor beta gene confirmed a heterozygous missense mutation in exon 9; and the amino acid alteration was a substitution of a threonine(ACG) for a methionine(ATG) at codon313. Sequeuce analysis of the parents showed no mutation.We report the first case of a man with RTH caused by a de novo mutation(M313T) in TRbeta gene, confirmed by sequeuce analysis.

MeSH Terms

Clinical Coding
Exons
Fatigue
Goiter
Humans
Magnetic Resonance Imaging
Mutation, Missense
Parents
Pituitary Hormones
Prolactin
Receptors, Thyroid Hormone*
Thyroid Function Tests
Thyroid Gland*
Thyroid Hormone Receptors beta*
Young Adult
Pituitary Hormones
Prolactin
Receptors, Thyroid Hormone
Thyroid Hormone Receptors beta